rs765965968
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs765965968(G;T) |
Make rs765965968(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2498333 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs765965968 |
dbSNP (classic) | rs765965968 |
ClinGen | rs765965968 |
ebi | rs765965968 |
HLI | rs765965968 |
Exac | rs765965968 |
Gnomad | rs765965968 |
Varsome | rs765965968 |
LitVar | rs765965968 |
Map | rs765965968 |
PheGenI | rs765965968 |
Biobank | rs765965968 |
1000 genomes | rs765965968 |
hgdp | rs765965968 |
ensembl | rs765965968 |
geneview | rs765965968 |
scholar | rs765965968 |
rs765965968 | |
pharmgkb | rs765965968 |
gwascentral | rs765965968 |
openSNP | rs765965968 |
23andMe | rs765965968 |
SNPshot | rs765965968 |
SNPdbe | rs765965968 |
MSV3d | rs765965968 |
GWAS Ctlg | rs765965968 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765965968(A;A) rs765965968(T;T) |
Alt | rs765965968(A;A) rs765965968(T;T) |
Reference | Rs765965968(G;G) |
Significance | Pathogenic |
Disease | Progressive myoclonus epilepsy with ataxia |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Progressive myoclonus epilepsy with ataxia |
Reversed | 0 |
HGVS | NC_000016.9:g.2548334G>T |
CLNSRC | |
CLNACC | RCV000192071.1, |